L27V (p.Leu27Val) variant of VKORC1 (Q9BQB6)
L27V (p.Leu27Val) in VKORC1 (Q9BQB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- 1000Genomes rs549914326
- ExAC rs549914326
- TOPMed rs549914326
- gnomAD rs549914326
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.78
- CADD 24.60
- PolyPhen-2 0.53
- SIFT 0.04
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available